Abstract:
:Mutations in the gene for the ganglioside-induced-differentiation-associated-protein 1 on 8q21 were recently reported to cause autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We report a detailed clinical, electrophysiological and genetic study of two young patients harbouring missense GDAP1 mutations. The two patients presented severe neuropathy with an early onset. One of the mutations (Tyr279Cys) has never been hitherto reported. Electrophysiological investigations suggested a predominant axonal damage in both patients. Despite the similitude of the type of mutations and electromyographic features, the clinical course was different for the patients, highlighting the complexity of genotype/phenotype relationships among GDAP1 mutations.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Rougeot C,Chabrier S,Camdessanche JP,Prieur F,d'Anjou MC,Latour Pdoi
10.1055/s-0028-1085467subject
Has Abstractpub_date
2008-06-01 00:00:00pages
184-7issue
3eissn
0174-304Xissn
1439-1899journal_volume
39pub_type
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